Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018403dupCA1053924HJVc.960dup (p.Cys321ValfsTer21)
c.282dup (p.Cys95ValfsTer21)
c.621dup (p.Cys208ValfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018403delCA526253952HJVc.960del (p.Cys321AlafsTer18)
c.282del (p.Cys95AlafsTer18)
c.621del (p.Cys208AlafsTer18)
 dbSNP gnomAD v2 gnomAD v4
1g.146018399C>ACA252249HJVc.959G>T (p.Gly320Val)
c.281G>T (p.Gly94Val)
c.620G>T (p.Gly207Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018399C=CA1140886749HJVc.959G= (p.Gly320=)
c.281G= (p.Gly94=)
c.620G= (p.Gly207=)
1g.146018399C>GCA342135108HJVc.959G>C (p.Gly320Ala)
c.281G>C (p.Gly94Ala)
c.620G>C (p.Gly207Ala)
 gnomAD v4
1g.146018399C>TCA342135102HJVc.959G>A (p.Gly320Glu)
c.281G>A (p.Gly94Glu)
c.620G>A (p.Gly207Glu)
 gnomAD v4
1g.146018400C>ACA1053926HJVc.958G>T (p.Gly320Trp)
c.280G>T (p.Gly94Trp)
c.619G>T (p.Gly207Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018400C=CA1198820952HJVc.958G= (p.Gly320=)
c.280G= (p.Gly94=)
c.619G= (p.Gly207=)
1g.146018400C>GCA29823639HJVc.958G>C (p.Gly320Arg)
c.280G>C (p.Gly94Arg)
c.619G>C (p.Gly207Arg)
1g.146018400C>TCA29823642HJVc.958G>A (p.Gly320Arg)
c.280G>A (p.Gly94Arg)
c.619G>A (p.Gly207Arg)
 gnomAD v4
1g.146018401C>ACA420603383HJVc.957G>T (p.Gly319=)
c.279G>T (p.Gly93=)
c.618G>T (p.Gly206=)
1g.146018401C>GCA420603384HJVc.957G>C (p.Gly319=)
c.279G>C (p.Gly93=)
c.618G>C (p.Gly206=)
1g.146018401C>TCA420603382HJVc.957G>A (p.Gly319=)
c.279G>A (p.Gly93=)
c.618G>A (p.Gly206=)
1g.146018402C>ACA342135136HJVc.956G>T (p.Gly319Val)
c.278G>T (p.Gly93Val)
c.617G>T (p.Gly206Val)
1g.146018402C=CA1141668450HJVc.956G= (p.Gly319=)
c.278G= (p.Gly93=)
c.617G= (p.Gly206=)
1g.146018402C>GCA1053925HJVc.956G>C (p.Gly319Ala)
c.278G>C (p.Gly93Ala)
c.617G>C (p.Gly206Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018402C>TCA342135140HJVc.956G>A (p.Gly319Glu)
c.278G>A (p.Gly93Glu)
c.617G>A (p.Gly206Glu)
 COSMIC
1g.146018402_146018403insGCA342135141HJVc.955_956insC (p.Gly319AlafsTer23)
c.277_278insC (p.Gly93AlafsTer23)
c.616_617insC (p.Gly206AlafsTer23)
1g.146018403C>ACA342135149HJVc.955G>T (p.Gly319Trp)
c.277G>T (p.Gly93Trp)
c.616G>T (p.Gly206Trp)
1g.146018403C=CA1198820953HJVc.955G= (p.Gly319=)
c.277G= (p.Gly93=)
c.616G= (p.Gly206=)
1g.146018403C>GCA342135148HJVc.955G>C (p.Gly319Arg)
c.277G>C (p.Gly93Arg)
c.616G>C (p.Gly206Arg)
1g.146018403C>TCA342135143HJVc.955G>A (p.Gly319Arg)
c.277G>A (p.Gly93Arg)
c.616G>A (p.Gly206Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.146018403_146018404insGCA29823652HJVc.954_955insC (p.Gly319ArgfsTer23)
c.276_277insC (p.Gly93ArgfsTer23)
c.615_616insC (p.Gly206ArgfsTer23)
1g.146018404A=CA1198820954HJVc.954T= (p.Val318=)
c.276T= (p.Val92=)
c.615T= (p.Val205=)
1g.146018404A>CCA420603389HJVc.954T>G (p.Val318=)
c.276T>G (p.Val92=)
c.615T>G (p.Val205=)
1g.146018404A>GCA420603388HJVc.954T>C (p.Val318=)
c.276T>C (p.Val92=)
c.615T>C (p.Val205=)
 gnomAD v4
1g.146018404A>TCA420603390HJVc.954T>A (p.Val318=)
c.276T>A (p.Val92=)
c.615T>A (p.Val205=)
 dbSNP gnomAD v4
1g.146018405A=CA1198820955HJVc.953T= (p.Val318=)
c.275T= (p.Val92=)
c.614T= (p.Val205=)
1g.146018405A>CCA342135167HJVc.953T>G (p.Val318Gly)
c.275T>G (p.Val92Gly)
c.614T>G (p.Val205Gly)
1g.146018405A>GCA342135173HJVc.953T>C (p.Val318Ala)
c.275T>C (p.Val92Ala)
c.614T>C (p.Val205Ala)
 dbSNP gnomAD v4
1g.146018405A>TCA342135180HJVc.953T>A (p.Val318Asp)
c.275T>A (p.Val92Asp)
c.614T>A (p.Val205Asp)
1g.146018406C>ACA342135184HJVc.952G>T (p.Val318Phe)
c.274G>T (p.Val92Phe)
c.613G>T (p.Val205Phe)
1g.146018406C>GCA342135188HJVc.952G>C (p.Val318Leu)
c.274G>C (p.Val92Leu)
c.613G>C (p.Val205Leu)
1g.146018406C>TCA342135191HJVc.952G>A (p.Val318Ile)
c.274G>A (p.Val92Ile)
c.613G>A (p.Val205Ile)
 gnomAD v4
1g.146018407A>CCA342135197HJVc.951T>G (p.Cys317Trp)
c.273T>G (p.Cys91Trp)
c.612T>G (p.Cys204Trp)
1g.146018407A>GCA420603395HJVc.951T>C (p.Cys317=)
c.273T>C (p.Cys91=)
c.612T>C (p.Cys204=)
1g.146018407A>TCA342135215HJVc.951T>A (p.Cys317Ter)
c.273T>A (p.Cys91Ter)
c.612T>A (p.Cys204Ter)
1g.146018408C>ACA342135227HJVc.950G>T (p.Cys317Phe)
c.272G>T (p.Cys91Phe)
c.611G>T (p.Cys204Phe)
1g.146018408C=CA1198820956HJVc.950G= (p.Cys317=)
c.272G= (p.Cys91=)
c.611G= (p.Cys204=)
1g.146018408C>GCA342135226HJVc.950G>C (p.Cys317Ser)
c.272G>C (p.Cys91Ser)
c.611G>C (p.Cys204Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018408C>TCA342135224HJVc.950G>A (p.Cys317Tyr)
c.272G>A (p.Cys91Tyr)
c.611G>A (p.Cys204Tyr)
 ClinVar dbSNP
1g.146018409A>CCA342135229HJVc.949T>G (p.Cys317Gly)
c.271T>G (p.Cys91Gly)
c.610T>G (p.Cys204Gly)
1g.146018409A>GCA342135245HJVc.949T>C (p.Cys317Arg)
c.271T>C (p.Cys91Arg)
c.610T>C (p.Cys204Arg)
1g.146018409A>TCA342135244HJVc.949T>A (p.Cys317Ser)
c.271T>A (p.Cys91Ser)
c.610T>A (p.Cys204Ser)
1g.146018410G>ACA420603400HJVc.948C>T (p.Leu316=)
c.270C>T (p.Leu90=)
c.609C>T (p.Leu203=)
1g.146018410G>CCA420603401HJVc.948C>G (p.Leu316=)
c.270C>G (p.Leu90=)
c.609C>G (p.Leu203=)
1g.146018410G>TCA420603399HJVc.948C>A (p.Leu316=)
c.270C>A (p.Leu90=)
c.609C>A (p.Leu203=)
1g.146018411A>CCA342135246HJVc.947T>G (p.Leu316Arg)
c.269T>G (p.Leu90Arg)
c.608T>G (p.Leu203Arg)
1g.146018411A>GCA342135248HJVc.947T>C (p.Leu316Pro)
c.269T>C (p.Leu90Pro)
c.608T>C (p.Leu203Pro)
1g.146018411A>TCA342135247HJVc.947T>A (p.Leu316His)
c.269T>A (p.Leu90His)
c.608T>A (p.Leu203His)

Number of alleles fetched